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Variant (rsID / SNP)

rs139399106

TNNI2

rs139399106 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNI2. Location: chromosome 11, position 1,862,371. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TNNI2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:1862371
Cytoband
11p15.5
HGVS
NM_003282.4(TNNI2):c.387G>A (p.Ser129=)
Allele change
Synonymous_S129S

Associated conditions / phenotypes

Arthrogryposis multiplex congenita distal|Arthrogryposis multiplex congenita

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.